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LOC121627949 Sharpr-MPRA regulatory region 12495 [ Homo sapiens (human) ]

Gene ID: 121627949, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627949
Gene description
Sharpr-MPRA regulatory region 12495
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43293743..43294037)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43774778..43775072)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43689749..43690043)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene signal peptide, CUB domain and EGF like domain containing 1 Neighboring gene uncharacterized LOC124905129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:43659412-43660611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43664742-43665530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43665531-43666317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43673726-43674226 Neighboring gene SCUBE1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43678267-43678767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43689171-43689688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43696443-43696944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43696945-43697444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43708128-43708708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43708709-43709288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43709955-43710456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43724267-43725041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43725042-43725815 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43742520-43742665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43765639-43766140 Neighboring gene uncharacterized LOC105373053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43784068-43784646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43784647-43785225 Neighboring gene long intergenic non-protein coding RNA 1639

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_075141.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    43293743..43294037
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    43774778..43775072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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